HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Situs Inversus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		0.010 Biomarker disease BEFREE A novel mutation in intron 9-exon 10 boundary of the GCK gene was detected in a male patient with clinical features of GCK-MODY and situs inversus. 30086370 2018